Canonical Allele Identifier: CA389755394

Gene: RPS29

Linked Data

• MyVariant Identifiers: chr14:g.50052694A>T (hg19) ; chr14:g.49585976A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49585976A>T , CM000676.2:g.49585976A>T	GRCh38
NC_000014.8:g.50052694A>T , CM000676.1:g.50052694A>T	GRCh37
NC_000014.7:g.49122444A>T	NCBI36
NG_050638.2:g.17735T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000245458.11:c.136T>A MANE Select	ENSP00000245458.7:p.Tyr46Asn
ENST00000554075.2:c.136T>A	ENSP00000496485.1:p.Tyr46Asn
ENST00000556230.2:c.136T>A	ENSP00000495033.1:p.Tyr46Asn
ENST00000245458.10:c.136T>A	ENSP00000245458.6:p.Tyr46Asn
ENST00000396020.7:c.136T>A	ENSP00000379339.3:p.Tyr46Asn
ENST00000554075.1:n.148T>A
ENST00000556230.1:n.166T>A
ENST00000557111.5:c.127T>A	ENSP00000478117.1:p.Tyr43Asn
ENST00000557367.2:n.376T>A
ENST00000557519.1:n.115T>A
ENST00000611563.1:c.136T>A	ENSP00000479892.1:p.Tyr46Asn
NM_001030001.2:c.136T>A	NP_001025172.1:p.Tyr46Asn
NM_001032.4:c.136T>A	NP_001023.1:p.Tyr46Asn
NM_001030001.3:c.136T>A	NP_001025172.1:p.Tyr46Asn
NM_001351375.1:c.127T>A	NP_001338304.1:p.Tyr43Asn
NM_001030001.4:c.136T>A	NP_001025172.1:p.Tyr46Asn
NM_001032.5:c.136T>A MANE Select	NP_001023.1:p.Tyr46Asn
NM_001351375.2:c.127T>A	NP_001338304.1:p.Tyr43Asn